Abstract

Purpose — to analyze results of complex prenatal examination of pregnant women with congenital diaphragmatic hernia in the fetus, to provide description of associated structural and chromosomal pathology, to compare some clinical parameters, according to presence of associated pathology. Patients and methods. A retrospective analysis of the data on ultrasound examinations and invasive procedures in 200 patients with congenital diaphragmatic hernia in the fetus, who were referred to the Department of Fetal Medicine in 2007–2018. Results. The meanterm of patients' primary referral was 27.37±7.20 weeks, the proportion of patients referred before 22 weeks of pregnancy was 38.5%. Isolated diaphragmatic hernia was diagnosed in 73 % of cases, in combination with other pathology — in 27%. Among associated pathology in 87% of cases there were present other structural anomalies, in 11.1% of cases — chromosomal pathology and structural anomalies, and in one case — chromosomal pathology without signs of other structural pathology. Associated structural malformations were predominantly represented by congenital heart defects, anomalies of central nervous system, genitourinary and musculoskeletal systems. In cases with associated pathology there was significantly lower average term of primary referral than in cases of isolated diaphragmatic hernia (25.39±6.8 weeks vs 28.10±7.2 weeks; p=0.018), and significantly higher rate of patients with polyhydramnios (OR 2.97; 95 % CІ 1.52–5.78) and IUGR (OR 3.54; 95% CI 1.53–6.01). Conclusions. The mean term of primary referral of patients with fetal congenital diaphragmatic hernia was unsatisfactory for timely complete examination and determination of the pregnancy management. The spectrum o associated structural anomalies in fetuses with diaphragmatic hernia who weren't diagnosed with chromosomal pathology may suspect presence of other syndromic pathology, requiring another methods of investigations.

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